Product Details

SNP ID

rs199601303

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:40754030 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTCTTAACAAACCTGTTTCAGGT[G/T]CTTCTTTAGTAACTGCCATCATGTC

Phenotype

MIM: 611992

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MRPS31 PubMed Links

Gene Details

Gene

MRPS31

Gene Name

mitochondrial ribosomal protein S31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005830.3	878	Missense Mutation	GAA,GCA	E268A	NP_005821.2

View Full Product Details